Varaico: Literature-Extracted Genetic Variants

MED12

1,019 papers

RefSeq Summary

The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Me...

Pfam Domains

Med12aa 104–161UCSCTranscription mediator complex subunit Med12

Med12-LCEWAVaa 286–757UCSCEukaryotic Mediator 12 subunit domain

Med12-PQLaa 1819–2022UCSCEukaryotic Mediator 12 catenin-binding domain

Gene Aliases

HGNC Name

mediator complex subunit 12

HGNC Previous Symbols

TNRC11; FGS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005120.3

p.G1064W

c.3190G>T

Surrounding Variants

1 paper

NM_005120.3

p.G1064insFs

c.3192dupG

1 paper

NM_005120.3

p.H1065fs

c.3193_3194fs

1 paper

NM_005120.3

p.H1066Y

c.3196C>T

1 paper

NM_005120.3

p.H1060Y

c.3178C>T

2 papers

NM_005120.3

p.D1069N

c.3205G>A

1 paper

NM_005120.3

p.D1069Y

c.3205G>T

1 paper

NM_005120.3

p.R1070W

c.3208A>T

2 papers

NM_005120.3

p.R1070S

c.3210G>C

2 papers

NM_005120.3

p.R1070S

c.3210G>T

1 paper

NM_005120.3

p.S1052I

c.3155G>T

1 paper

NM_005120.3

p.S1052C

c.3154A>T

1 paper

NM_005120.3

p.R1050C

c.3148C>T